Incidental Mutation 'R0967:Ssc5d'
ID 83905
Institutional Source Beutler Lab
Gene Symbol Ssc5d
Ensembl Gene ENSMUSG00000035279
Gene Name scavenger receptor cysteine rich family, 5 domains
Synonyms A430110N23Rik, s5d-srcrb
MMRRC Submission 039096-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0967 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 4928820-4947827 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 4947342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 1232 (L1232*)
Ref Sequence ENSEMBL: ENSMUSP00000052126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057612] [ENSMUST00000208109]
AlphaFold Q8BV57
Predicted Effect probably null
Transcript: ENSMUST00000057612
AA Change: L1232*
SMART Domains Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279
AA Change: L1232*

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
SR 20 120 4.44e-49 SMART
low complexity region 141 155 N/A INTRINSIC
low complexity region 167 182 N/A INTRINSIC
SR 199 299 2.36e-53 SMART
SR 305 405 8.22e-53 SMART
low complexity region 437 462 N/A INTRINSIC
SR 464 565 1.11e-49 SMART
low complexity region 741 755 N/A INTRINSIC
SR 758 858 3.93e-50 SMART
low complexity region 936 957 N/A INTRINSIC
low complexity region 981 1004 N/A INTRINSIC
low complexity region 1018 1035 N/A INTRINSIC
low complexity region 1218 1230 N/A INTRINSIC
low complexity region 1357 1364 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207310
Predicted Effect probably benign
Transcript: ENSMUST00000208109
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.1%
  • 20x: 90.5%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 G T 18: 59,105,812 (GRCm39) E736* probably null Het
Atxn7l3 C G 11: 102,183,261 (GRCm39) probably benign Het
Camk1g T C 1: 193,032,604 (GRCm39) E269G probably damaging Het
Ccrl2 G A 9: 110,884,754 (GRCm39) T248M probably benign Het
Chd9 T C 8: 91,716,107 (GRCm39) S421P probably damaging Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Cplane2 T C 4: 140,947,162 (GRCm39) M181T probably benign Het
Csmd3 T C 15: 47,721,227 (GRCm39) E1468G probably null Het
Cyc1 T C 15: 76,229,848 (GRCm39) probably benign Het
Fli1 T A 9: 32,372,745 (GRCm39) T98S probably benign Het
Gk2 T C 5: 97,604,155 (GRCm39) S228G probably benign Het
Gse1 T A 8: 121,297,594 (GRCm39) probably benign Het
Hgf T A 5: 16,798,839 (GRCm39) probably benign Het
Hif1a G A 12: 73,984,444 (GRCm39) V300I possibly damaging Het
Hsd17b4 C A 18: 50,316,328 (GRCm39) H652N probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Kif5c T A 2: 49,588,128 (GRCm39) probably benign Het
Lgr6 T C 1: 134,921,750 (GRCm39) Y198C probably damaging Het
Lpcat2b T A 5: 107,582,084 (GRCm39) M471K possibly damaging Het
Med21 A G 6: 146,551,697 (GRCm39) E116G probably benign Het
Mos A G 4: 3,870,932 (GRCm39) S295P probably benign Het
Ms4a15 A T 19: 10,956,685 (GRCm39) V209E probably damaging Het
Mttp A G 3: 137,798,484 (GRCm39) V804A probably benign Het
Or10ah1-ps1 A G 5: 143,123,594 (GRCm39) M121T probably damaging Het
Or52n4b T C 7: 108,143,996 (GRCm39) I86T probably damaging Het
Or5ac23 T A 16: 59,149,546 (GRCm39) T109S possibly damaging Het
Plagl1 T C 10: 13,003,986 (GRCm39) probably benign Het
Prpf8 T A 11: 75,385,256 (GRCm39) V797E probably damaging Het
Rars2 A G 4: 34,646,587 (GRCm39) D284G probably benign Het
Rassf8 T C 6: 145,765,676 (GRCm39) probably benign Het
Rfx3 A G 19: 27,783,751 (GRCm39) probably benign Het
Ripk4 A T 16: 97,545,372 (GRCm39) M362K probably damaging Het
Rubcn C A 16: 32,646,087 (GRCm39) E815D probably benign Het
Scn8a A G 15: 100,933,527 (GRCm39) Y1577C probably damaging Het
Sec24b C T 3: 129,790,431 (GRCm39) R698Q probably damaging Het
Usp7 A T 16: 8,514,518 (GRCm39) probably benign Het
Vmn2r51 T G 7: 9,834,012 (GRCm39) H342P probably damaging Het
Vmn2r70 A G 7: 85,208,827 (GRCm39) M550T probably damaging Het
Vmn2r81 T C 10: 79,083,857 (GRCm39) probably benign Het
Zc3h13 T C 14: 75,581,179 (GRCm39) I1722T possibly damaging Het
Other mutations in Ssc5d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Ssc5d APN 7 4,947,480 (GRCm39) missense possibly damaging 0.63
IGL00939:Ssc5d APN 7 4,939,280 (GRCm39) missense possibly damaging 0.89
IGL01109:Ssc5d APN 7 4,940,111 (GRCm39) nonsense probably null
IGL01409:Ssc5d APN 7 4,945,808 (GRCm39) missense probably benign 0.16
IGL01880:Ssc5d APN 7 4,936,218 (GRCm39) missense probably damaging 1.00
IGL02013:Ssc5d APN 7 4,946,835 (GRCm39) missense probably benign 0.00
IGL02227:Ssc5d APN 7 4,936,453 (GRCm39) critical splice donor site probably null
IGL02963:Ssc5d APN 7 4,947,326 (GRCm39) missense probably benign 0.02
D4043:Ssc5d UTSW 7 4,946,982 (GRCm39) missense possibly damaging 0.70
D4216:Ssc5d UTSW 7 4,946,982 (GRCm39) missense possibly damaging 0.70
R0104:Ssc5d UTSW 7 4,939,285 (GRCm39) missense probably benign 0.41
R0115:Ssc5d UTSW 7 4,930,880 (GRCm39) unclassified probably benign
R0201:Ssc5d UTSW 7 4,947,662 (GRCm39) missense probably benign
R0365:Ssc5d UTSW 7 4,931,466 (GRCm39) nonsense probably null
R0485:Ssc5d UTSW 7 4,940,470 (GRCm39) missense probably damaging 0.99
R1607:Ssc5d UTSW 7 4,947,042 (GRCm39) missense probably benign 0.25
R1639:Ssc5d UTSW 7 4,931,416 (GRCm39) missense probably damaging 1.00
R1801:Ssc5d UTSW 7 4,939,606 (GRCm39) missense probably benign 0.05
R1867:Ssc5d UTSW 7 4,931,506 (GRCm39) missense probably damaging 1.00
R1999:Ssc5d UTSW 7 4,945,713 (GRCm39) missense possibly damaging 0.86
R2007:Ssc5d UTSW 7 4,931,628 (GRCm39) missense probably damaging 1.00
R2084:Ssc5d UTSW 7 4,940,011 (GRCm39) missense probably benign 0.01
R2234:Ssc5d UTSW 7 4,946,849 (GRCm39) missense probably benign
R2259:Ssc5d UTSW 7 4,946,915 (GRCm39) missense probably benign 0.01
R2567:Ssc5d UTSW 7 4,939,334 (GRCm39) missense probably damaging 1.00
R2879:Ssc5d UTSW 7 4,939,906 (GRCm39) critical splice acceptor site probably null
R3782:Ssc5d UTSW 7 4,945,790 (GRCm39) missense probably benign 0.00
R3875:Ssc5d UTSW 7 4,930,261 (GRCm39) missense probably damaging 1.00
R4322:Ssc5d UTSW 7 4,931,449 (GRCm39) missense probably damaging 1.00
R4331:Ssc5d UTSW 7 4,945,725 (GRCm39) missense probably benign 0.00
R4334:Ssc5d UTSW 7 4,946,663 (GRCm39) missense probably benign
R4430:Ssc5d UTSW 7 4,946,663 (GRCm39) missense probably benign
R4619:Ssc5d UTSW 7 4,932,524 (GRCm39) missense probably damaging 1.00
R4794:Ssc5d UTSW 7 4,946,744 (GRCm39) missense probably benign
R5106:Ssc5d UTSW 7 4,939,664 (GRCm39) missense probably benign 0.31
R5174:Ssc5d UTSW 7 4,930,970 (GRCm39) missense possibly damaging 0.83
R5553:Ssc5d UTSW 7 4,939,289 (GRCm39) missense probably damaging 1.00
R5649:Ssc5d UTSW 7 4,929,517 (GRCm39) critical splice donor site probably null
R5786:Ssc5d UTSW 7 4,939,817 (GRCm39) missense probably benign 0.00
R6059:Ssc5d UTSW 7 4,945,743 (GRCm39) missense possibly damaging 0.86
R6163:Ssc5d UTSW 7 4,930,253 (GRCm39) missense probably damaging 1.00
R6332:Ssc5d UTSW 7 4,940,521 (GRCm39) missense probably damaging 1.00
R6341:Ssc5d UTSW 7 4,939,664 (GRCm39) missense probably benign 0.31
R6613:Ssc5d UTSW 7 4,936,292 (GRCm39) missense possibly damaging 0.82
R7180:Ssc5d UTSW 7 4,939,600 (GRCm39) missense probably benign 0.17
R7576:Ssc5d UTSW 7 4,931,572 (GRCm39) missense probably damaging 1.00
R7602:Ssc5d UTSW 7 4,945,745 (GRCm39) missense possibly damaging 0.95
R7609:Ssc5d UTSW 7 4,930,575 (GRCm39) missense possibly damaging 0.56
R7691:Ssc5d UTSW 7 4,947,168 (GRCm39) missense probably benign 0.29
R7759:Ssc5d UTSW 7 4,940,529 (GRCm39) nonsense probably null
R8480:Ssc5d UTSW 7 4,939,328 (GRCm39) missense probably damaging 1.00
R9029:Ssc5d UTSW 7 4,930,919 (GRCm39) missense probably damaging 0.97
R9163:Ssc5d UTSW 7 4,936,432 (GRCm39) missense probably damaging 1.00
R9178:Ssc5d UTSW 7 4,930,058 (GRCm39) missense probably damaging 1.00
R9181:Ssc5d UTSW 7 4,945,814 (GRCm39) missense possibly damaging 0.86
R9382:Ssc5d UTSW 7 4,930,283 (GRCm39) critical splice donor site probably null
R9489:Ssc5d UTSW 7 4,940,599 (GRCm39) missense probably benign 0.02
R9626:Ssc5d UTSW 7 4,946,568 (GRCm39) missense probably benign
R9630:Ssc5d UTSW 7 4,939,426 (GRCm39) missense probably damaging 1.00
R9776:Ssc5d UTSW 7 4,932,367 (GRCm39) missense probably benign 0.07
X0063:Ssc5d UTSW 7 4,939,286 (GRCm39) missense probably damaging 1.00
Z1088:Ssc5d UTSW 7 4,931,433 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGCTGACTCCAGGACCTGATACAAC -3'
(R):5'- TGGCTCACAAGCCATGACCCTTAC -3'

Sequencing Primer
(F):5'- GAAAGTTCTGACTCCTCAGACCTC -3'
(R):5'- CTGGTGGTAATGGGGACACAC -3'
Posted On 2013-11-08